Otologic manifestation of Melnick-Needles Syndrome
نویسندگان
چکیده
منابع مشابه
Maxillofacial Changes in Melnick-Needles Syndrome
Background. Melnick-Needles Syndrome is rare congenital hereditary skeletal dysplasia caused by mutations in the FLNA gene, which codifies the protein filamin A. This condition leads to serious skeletal abnormalities, including the stomatognathic region. Case Presentation. This paper describes the case of a 13-year-old girl diagnosed with Melnick-Needles Syndrome presenting with different forms...
متن کاملMelnick- needles osteodysplasty presenting with quadriparesis.
Melnick-Needles syndrome or osteodysplasty, a monogenic heritable bone dysplasia, is characterized by a typical facies and characteristic radiological findings. Less than 70 well-documented cases have been reported in literature; most of them were sporadic. We report the first case from Eastern India in an adolescent male, who had cranio-vertebral junction anomalies and presented with spastic q...
متن کاملMelnick-Needles Syndrome: report of a case associated with bilateral hypoplasia of the cochlea.
Melnick-Needles Syndrome is a rare disorder associated with many abnormalities. This case report describes a patient with Melnick-Needles Syndrome who was found to have bilateral hypoplasia of the cochlea, a finding not previously described in the literature. The case report describes the syndrome and demonstrates the findings on CT and MR imaging of temporal bones.
متن کاملMelnick−Needles Syndrome Associated with Growth Hormone Deficiency: A Case Report
Melnick-Needles syndrome is an X-linked dominant bone dysplasia characterized by a typical facies (exophthalmos, full cheeks, micrognathia, and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of the lower extremities, irregular constriction in the ribs, and sclerosis of base of the skull. The phenotype of affected individuals varies, even within families. About...
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IgG4-related systemic disease, including autoimmune pancreatitis, is a multi-organ disorder characterized by elevated serum immunoglobulin G4 (IgG4) concentration and IgG4-positive plasma cell infiltration. We report a case of a 66-year-old woman with IgG4-related hearing disorder, presenting with fluctuating mixed hearing loss with middle ear effusion. The serum IgG4 level was elevated and pat...
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ژورنال
عنوان ژورنال: Journal of Clinical Otolaryngology Head and Neck Surgery
سال: 1997
ISSN: 1225-0244,2713-833X
DOI: 10.35420/jcohns.1997.8.2.293